Tag

Statins

33 genetic variants with this tag.

RSID	Gene	Description	Category
rs11591147	PCSK9 R46L	Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...	Atherogenic Lipoproteins	Statins	Established
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allel...	Atherogenic Lipoproteins	Statins	Moderate
rs137852912	PCSK9 D374Y	The most severe gain-of-function PCSK9 mutation, increasing LDLR-binding affi...	Atherogenic Lipoproteins	Statins	Established
rs1125226	CYP7A1 CYP7A1 upstream promoter variant	Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile aci...	Cholesterol & Lipoproteins	Statins	Emerging
rs28942111	PCSK9 S127R	Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominan...	Atherogenic Lipoproteins	Statins	Established
rs12721627	CYP3A4 *16	Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on subst...	Pharmacogenomics	Statins	Moderate
rs505151	PCSK9 E670G	Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c...	Atherogenic Lipoproteins	Statins	Moderate
rs12713559	APOB APOB R3558C	Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%,...	Cholesterol & Lipoproteins	Statins	Moderate
rs137943601	LDLR LDLR E408* (Glu408Ter)	Nonsense mutation in the LDLR gene creating a premature stop codon at positio...	Cholesterol & Lipoproteins	Statins	Strong
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Statins	Moderate
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	Statins	Moderate
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Statins	Strong
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Statins	Strong
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Atherogenic Lipoproteins	Statins	Strong
rs2228314	SREBF2 SREBF2 G1784C	Missense variant in the master cholesterol transcription factor SREBP-2 that ...	Cholesterol & Lipoproteins	Statins	Moderate
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Statins	Strong
rs730882094	LDLR Asn316Ser (N316S)	Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain ca...	Atherogenic Lipoproteins	Statins	Strong
rs28942083	LDLR Cys667Tyr	Pathogenic LDLR missense variant abolishing LDL receptor surface expression, ...	Cholesterol & Lipoproteins	Statins	Established
rs730882105	LDLR p.Val524Met	Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial ...	Atherogenic Lipoproteins	Statins	Moderate
rs28942084	LDLR LDLR Pro685Leu	Pathogenic LDLR missense variant in the EGF precursor domain causing familial...	Cholesterol & Lipoproteins	Statins	Established
rs763625913	LDLR Q770* (c.2308C>T)	Rare pathogenic nonsense variant in the LDL receptor gene that abolishes rece...	Atherogenic Lipoproteins	Statins	Established
rs28942085	LDLR LDLR Y828C (J.D. mutation)	Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outsi...	Cholesterol & Lipoproteins	Statins	Established
rs3846662	HMGCR HMGCR Intron 13 Splice Variant	Intronic HMGCR variant that modulates alternative splicing of exon 13, produc...	Cholesterol & Lipoproteins	Statins	Moderate
rs3846663	HMGCR HMGCR Exon 13 Haplotype Tag	Intronic HMGCR variant that tags a haplotype influencing exon 13 alternative ...	Cholesterol & Lipoproteins	Statins	Strong
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Statins	Established
rs2242480	CYP3A4 *1G	Intronic variant in CYP3A4 intron 10 that upregulates a suppressive lncRNA, r...	Pharmacogenomics	Statins	Strong
rs673548	APOB	Intronic APOB variant associated with modest differences in apolipoprotein B ...	Cholesterol & Lipoproteins	Statins	Moderate
rs8192870	CYP7A1 CYP7A1 intron 1 variant	Intronic variant in the rate-limiting bile acid synthesis gene; T allele carr...	Cholesterol & Lipoproteins	Statins	Moderate
rs9818870	MRAS	3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increas...	Coronary Artery Disease & Atherosclerosis	Statins	Strong
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Statins	Established
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Statins	Established
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Statins	Established
rs55785340	CYP3A4 *2	Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva...	Pharmacogenomics	Statins	Moderate